Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		18 1 17 0.57 1 7.1E-03
CUI: C3661489
Disease: Autosomal Dominant Myotubular Myopathy
Autosomal Dominant Myotubular Myopathy 		13 0 13 0.45 0 0
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		13 0 13 0.45 0 0
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		16 0 13 0.41 0 0
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		16 0 13 0.41 0 0
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		40 13 18 0.35 2 1.3E-02
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		25 0 12 0.29 0 0
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		33 0 13 0.27 0 0
CUI: C4025571
Disease: Type 1 fibers relatively smaller than type 2 fibers
Type 1 fibers relatively smaller than type 2 fibers 		6 0 6 0.21 0 0
CUI: C3808250
Disease: Reduced forced vital capacity
Reduced forced vital capacity 		10 0 6 0.18 0 0
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		67 0 14 0.17 0 0
CUI: C4025785
Disease: Abnormality of the foot musculature
Abnormality of the foot musculature 		8 0 5 0.16 0 0
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs 		24 0 7 0.15 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 7 0.14 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 11 0.14 0 0
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		14 0 5 0.13 0 0
CUI: C4022583
Disease: Fatiguable weakness of proximal limb muscles
Fatiguable weakness of proximal limb muscles 		14 0 5 0.13 0 0
CUI: C4022591
Disease: Fatigable weakness of bulbar muscles
Fatigable weakness of bulbar muscles 		14 0 5 0.13 0 0
CUI: C4023180
Disease: Type 1 muscle fiber atrophy
Type 1 muscle fiber atrophy 		16 0 5 0.12 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 8 0.12 0 0
CUI: C0231531
Disease: Muscle fibrillation
Muscle fibrillation 		8 0 4 0.12 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 8 0.12 0 0
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		47 0 8 0.12 0 0
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy 		9 0 4 0.12 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 8 0.11 0 0